Figure 2. Example of familial cosegregation of a potential pathogenic mutation. (A) Pedigree shows people whose DNA was examined. The proband (P05), proband's sister (P05-F01), proband's daughter (P05-F02), and proband's son (P05-F03) were included. (B) The cholesterol levels of the proband and his sister were compatible with FH, whereas his 2 children had normal levels. Sanger sequencing revealed the same heterozygous mutation in the proband and his sister, whereas no mutations were present in his children (from Han et al.⁶⁾). The study including this figure was approved by the Institutional Review Board of Severance Hospital, Seoul, Korea (No. 4-2008-0267) and the participants gave written informed consent.